Some people have features of NF1 that are limited to only one part or one side of their body. This is called mosaic NF1 (also called segmental NF1). Mosaic NF1 is caused by a gene mutation that has ...
The MGL specializes in testing for all forms of neurofibromatoses including NF1, Legius syndrome (SPRED1 disorder), segmental NF, NF-Noonan, spinal NF, Watson syndrome, NF2, and schwannomatosis as ...
(A) Hypothetical pedigree of Segmental neurofibromitosis type 1 ... Moreover, molecular analysis reveals a putative deletion (MUT) in the NF1 gene in DNA obtained from the abnormal skin of ...